Experiments
Searchable full-text extractions: founding hypothesis, core claims, experimental setups, key results and statistics — pulled out of each paper as structure. Search a cell line, an assay or an entity (e.g. HUH7) and find every paper that worked with it. This corpus stands on its own: most entries carry no reproduction assessment (yet).
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Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library.
PMID 20037582 · PMC2951730 · Nature biotechnology · 2010 · 8 claims · 7 setups
A standardized, non-redundant library of 1,889 breakpoint-resolved SVs was assembled from eight published surveys
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Large genomic rearrangements in the CFTR gene contribute to CBAVD.
PMID 17448246 · PMC1876208 · BMC medical genetics · 2007 · 7 claims · 6 setups
Large genomic rearrangements in CFTR contribute to CBAVD and should be systematically investigated alongside point mutation screening
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Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes.
PMID 18775783 · PMC2729512 · Molecular and cellular neurosciences · 2008 · 8 claims · 8 setups
Six 22q11 genes (Mrpl40, Prodh, Slc25a1, Txnrd2, T10, Zdhhc8) encode proteins that localize to mitochondria, including neuronal/synaptic mitochondria.
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A novel 154-bp deletion in the human mitochondrial DNA control region in healthy individuals.
PMID 18629826 · PMC2697596 · Human mutation · 2008 · 8 claims · 5 setups
A novel 154-bp mtDNA control region deletion (m.16154_16307del154) was identified in a healthy family
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Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
PMID 17052327 · PMC1626071 · BMC medical genetics · 2006 · 8 claims · 8 setups
RSTS is caused by chromosomal microdeletions and point mutations in one copy of CREBBP (16p13.3), consistent with haploinsufficiency of this dosage-sensitive gene
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Sequence variations of GRM6 in patients with high myopia.
PMID 19862333 · PMC2765235 · Molecular vision · 2009 · 7 claims · 8 setups
Three novel GRM6 variations with predicted functional consequences (c.67-82delCAGGCGGGCCTGGCGCinsT, c.858-5a>g, c.1537G>A) were found in high myopia patients but absent in 96 controls
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Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism.
PMID 19087301 · PMC2635385 · BMC neurology · 2008 · 8 claims · 8 setups
A parkin exon 4 deletion segregates with disease in a three-generation family (Family F), homozygous in both affected individuals
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Broad network-based predictability of Saccharomyces cerevisiae gene loss-of-function phenotypes.
PMID 18053250 · PMC2246260 · Genome biology · 2007 · 8 claims · 4 setups
Loss-of-function phenotypes in yeast are predictable from a gene's connections in a functional gene network via guilt-by-association.
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targetTB: a target identification pipeline for Mycobacterium tuberculosis through an interactome, reactome and genome-scale structural analysis.
PMID 19099550 · PMC2651862 · BMC systems biology · 2008 · 8 claims · 8 setups
A comprehensive in silico target identification pipeline (targetTB) integrating interactome, reactome, essentiality, sequence and structural analyses can identify high-confidence drug targets for Mtb
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CHD5, a tumor suppressor gene deleted from 1p36.31 in neuroblastomas.
PMID 18577749 · PMC2483574 · Journal of the National Cancer Institute · 2008 · 7 claims · 8 setups
CHD5 promoter is highly methylated in neuroblastoma cell lines with 1p deletion and absent CHD5 expression (NLF, IMR5)
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Has reproduction · 100
DeepRNA-Reg: a deep-learning based approach for comparative analysis of CLIP experiments.
PMID 41055236 · PMC12505516 · RNA biology · 2025 · 7 claims · 5 setups
DeepRNA-Reg, a recurrent neural network-based algorithm, predicts differentially enriched sites in paired HITS-CLIP datasets and outperforms dCLIP 1.7.
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Has reproduction · 80
Ancient variation of the AvrPm17 gene in powdery mildew limits the effectiveness of the introgressed rye Pm17 resistance gene in wheat.
PMID 35857869 · PMC9335242 · Proceedings of the National Academy of Sciences of the United States of America · 2022 · 6 claims · 8 setups
AvrPm17 is encoded by a paralogous, tandemly duplicated effector gene pair located in a pericentromeric, mildew sublineage-specific effector cluster (family E003) showing signs of recurring gene conversion.
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MitoP2: the mitochondrial proteome database--now including mouse data.
PMID 16381964 · PMC1347489 · Nucleic acids research · 2006 · 8 claims · 8 setups
MitoP2 is a database integrating manually annotated mitochondrial reference proteins, functions, and disease associations for yeast, human, and mouse, with cross-species orthologue mapping
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BreakDancer: an algorithm for high-resolution mapping of genomic structural variation.
PMID 19668202 · PMC3661775 · Nature methods · 2009 · 8 claims · 8 setups
BreakDancer (BreakDancerMax + BreakDancerMini) is a software package that predicts a wide variety of structural variants including deletions, insertions, inversions, and intra/inter-chromosomal translocations from paired-end short-insert sequencing reads.
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Visualization-based discovery and analysis of genomic aberrations in microarray data.
PMID 15953389 · PMC1181623 · BMC bioinformatics · 2005 · 8 claims · 7 setups
ChARMView integrates dynamic visualization with automated statistical analysis (EM-based breakpoint detection, one-sample sign test, permutation mean test) to discover chromosomal aberrations from array CGH and gene expression data
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Identification and characterisation of the angiotensin converting enzyme-3 (ACE3) gene: a novel mammalian homologue of ACE.
PMID 17597519 · PMC1925091 · BMC genomics · 2007 · 7 claims · 7 setups
A novel single-domain ACE-like gene, ACE3, exists in mouse, rat, cow, dog and human genomes, located on the same chromosome downstream of ACE.
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Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1.
PMID 18992264 · PMC2682550 · Mutation research · 2009 · 8 claims · 8 setups
A combined functional assay, bioinformatics prediction, and structural modeling approach can classify BRCA1 variants of uncertain significance
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Discovery of novel human transcript variants by analysis of intronic single-block EST with polyadenylation site.
PMID 19906316 · PMC2784480 · BMC genomics · 2009 · 8 claims · 7 setups
Intronic single-block ESTs with poly(A/T) tails reveal previously unidentified novel transcript variants missed by existing databases.
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COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System.
PMID 19958500 · PMC2788389 · BMC genomics · 2009 · 8 claims · 6 setups
COMUS is a bioinformatics system for detecting and depositing new mutations from patient DNA with a clinician-friendly interface
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Sushi gets serious: the draft genome sequence of the pufferfish Fugu rubripes.
PMID 12225591 · PMC139409 · Genome biology · 2002 · 8 claims · 7 setups
The Fugu rubripes draft genome sequence was generated by whole-genome shotgun sequencing assembled to ~5.6x coverage using the JAZZ pipeline.